Varaico: Literature-Extracted Genetic Variants

UNC5A

52 papers

RefSeq Summary

UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[...

Pfam Domains

Unc5_NetrinR_Naa 38–142UCSCNetrin receptor unc-5 N-terminal domain

I-setaa 149–239UCSCImmunoglobulin I-set domain

ZU5aa 443–539UCSCZU5 domain

UPAaa 589–728UCSCUPA domain

Deathaa 760–833UCSCDeath domain

Gene Aliases

HGNC Name

unc-5 netrin receptor A

HGNC Alias Symbols

KIAA1976; UNC5H1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 54 variants

2 papers

NM_133369.3

p.A590T

c.1768G>A

1 paper

NM_133369.3

p.L7R

c.20T>G

1 paper

NM_133369.3

p.L12L

c.36G>C

1 paper

NM_133369.3

p.G22G

c.66C>T

1 paper

NM_133369.3

p.Q26L

c.77A>T

1 paper

NM_133369.3

p.D94D

c.282C>T

1 paper

NM_133369.3

p.S109S

c.327A>C

1 paper

NM_133369.3

p.Q111H

c.333G>C

1 paper

NM_133369.3

p.Q111H

c.333G>T

1 paper

NM_133369.3

p.K136E

c.406A>G

1 paper

NM_133369.3

p.R143S

c.427C>A

1 paper

NM_133369.3

p.R148H

c.443G>A